Genetics of congenital hypothyroidism: Modern concepts
A Stoupa, D Kariyawasam, M Polak, A Carré - Pediatric Investigation, 2022 - mednexus.org
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one
of the most common preventable causes of intellectual disability in the world. CH may be …
of the most common preventable causes of intellectual disability in the world. CH may be …
New genetics in congenital hypothyroidism
A Stoupa, D Kariyawasam, M Muzza, T de Filippis… - Endocrine, 2021 - Springer
Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …
disorder and one of the most common preventable forms of mental retardation worldwide …
Genetics of Primary Congenital Hypothyroidism.
N Zwaveling-Soonawala… - Pediatric Endocrinology …, 2018 - europepmc.org
Congenital hypothyroidism (CH) is one of the most common preventable forms of mental
retardation and since the implementation of neonatal screening programs in the mid-1970s …
retardation and since the implementation of neonatal screening programs in the mid-1970s …
Perspective: genetic defects in the etiology of congenital hypothyroidism
P Kopp - Endocrinology, 2002 - academic.oup.com
Congenital hypothyroidism affects about 1: 3000 to 1: 4000 infants and may be caused by
defects in thyroidal ontogeny or hormone synthesis. The impressive advances in molecular …
defects in thyroidal ontogeny or hormone synthesis. The impressive advances in molecular …
Genetics and management of congenital hypothyroidism
L Persani, G Rurale, T de Filippis, E Galazzi… - Best Practice & …, 2018 - Elsevier
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH),
however familial forms are uncommon. CH can be due to morphogenetic or functional …
however familial forms are uncommon. CH can be due to morphogenetic or functional …
Genetics of primary congenital hypothyroidism—a review
E Kostopoulou, K Miliordos, B Spiliotis - Hormones, 2021 - Springer
Purpose Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …
Update of thyroid developmental genes
A Stoupa, D Kariyawasam, A Carré… - … and Metabolism Clinics, 2016 - endo.theclinics.com
Congenital hypothyroidism (CH) is one of the most common preventable causes of mental
retardation worldwide and has an estimated prevalence about 1 in 3000 to 1 in 4000 …
retardation worldwide and has an estimated prevalence about 1 in 3000 to 1 in 4000 …
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and
results in mental retardation if untreated. Eighty-five percent of CH cases are due to …
results in mental retardation if untreated. Eighty-five percent of CH cases are due to …
Clinical genetics of congenital hypothyroidism
G Szinnai - Paediatric Thyroidology, 2014 - karger.com
Congenital hypothyroidism (CH) is a state of insufficient thyroid hormone supply to the
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.
AK Topaloglu - Pediatric Endocrinology Reviews: PER, 2006 - europepmc.org
Congenital hypothyroidism (CH) is most commonly caused by defects in thyroid
development leading to thyroid dysgenesis (80-90%), which consists of thyroid agenesis …
development leading to thyroid dysgenesis (80-90%), which consists of thyroid agenesis …